BPHL

Summary

BPHL (biphenyl hydrolase like, HGNC:1094) is a protein-coding gene on chromosome 6p25.2, encoding Serine hydrolase BPHL (Q86WA6). Specific alpha-amino acid ester serine hydrolase that prefers small, hydrophobic, and aromatic side chains and does not have a stringent requirement for the leaving group other than preferring a primary alcohol.

This gene encodes a member of the serine protease family of hydrolytic enzymes which contain a serine in their active site. The encoded protein may play a role in activation of the antiviral prodrug valacyclovir. Alternatively spliced transcript variants have been described.

Source: NCBI Gene 670 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 95 total — 25 pathogenic
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency dosage sensitivity unlikely, triplosensitivity no evidence
• MANE Select transcript: NM_004332

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1094
Approved symbol	BPHL
Name	biphenyl hydrolase like
Location	6p25.2
Locus type	gene with protein product
Status	Approved
Aliases	Bph-rp, VACVase
Ensembl gene	ENSG00000137274
Ensembl biotype	protein_coding
OMIM	603156
Entrez	670

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 11 protein_coding, 3 nonsense_mediated_decay, 3 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000380368, ENST00000380375, ENST00000380379, ENST00000423798, ENST00000424847, ENST00000430655, ENST00000433912, ENST00000434640, ENST00000464040, ENST00000479273, ENST00000488487, ENST00000490918, ENST00000902413, ENST00000902414, ENST00000902415, ENST00000902416, ENST00000902417, ENST00000902418

RefSeq mRNA: 2 — MANE Select: NM_004332 NM_001302777, NM_004332

CCDS: CCDS4483, CCDS78105

Canonical transcript exons

ENST00000380379 — 7 exons

Exon	Start	End
ENSE00001923833	3152488	3153578
ENSE00003458647	3137362	3137493
ENSE00003574616	3127242	3127408
ENSE00003583148	3129045	3129198
ENSE00003619175	3140386	3140509
ENSE00003658062	3123657	3123760
ENSE00003846213	3118711	3118847

Expression profiles

Bgee: expression breadth ubiquitous, 253 present calls, max score 96.73.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.1726 / max 172.4767, expressed in 1799 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
65520	18.1726	1799

Top tissues by expression

277 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	96.73	gold quality
adult mammalian kidney	UBERON:0000082	93.73	gold quality
liver	UBERON:0002107	92.54	gold quality
duodenum	UBERON:0002114	92.09	gold quality
ganglionic eminence	UBERON:0004023	91.27	gold quality
endometrium epithelium	UBERON:0004811	91.25	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.06	gold quality
ventricular zone	UBERON:0003053	90.47	gold quality
jejunal mucosa	UBERON:0000399	90.40	gold quality
kidney	UBERON:0002113	90.07	gold quality
adrenal tissue	UBERON:0018303	89.52	gold quality
cortical plate	UBERON:0005343	89.45	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	87.86	gold quality
metanephros cortex	UBERON:0010533	87.77	gold quality
adenohypophysis	UBERON:0002196	87.51	gold quality
small intestine Peyer’s patch	UBERON:0003454	87.49	gold quality
right adrenal gland cortex	UBERON:0035827	87.36	gold quality
right adrenal gland	UBERON:0001233	87.27	gold quality
small intestine	UBERON:0002108	87.26	gold quality
hindlimb stylopod muscle	UBERON:0004252	87.24	gold quality
left adrenal gland	UBERON:0001234	86.82	gold quality
mucosa of transverse colon	UBERON:0004991	86.79	gold quality
cingulate cortex	UBERON:0003027	86.78	gold quality
anterior cingulate cortex	UBERON:0009835	86.75	gold quality
nephron tubule	UBERON:0001231	86.67	gold quality
left adrenal gland cortex	UBERON:0035825	86.58	gold quality
embryo	UBERON:0000922	86.54	gold quality
cortex of kidney	UBERON:0001225	86.53	gold quality
pituitary gland	UBERON:0000007	86.46	gold quality
right hemisphere of cerebellum	UBERON:0014890	86.25	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-81608	yes	7.92
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): HNF4A, NR1I2

miRNA regulators (miRDB)

37 targeting BPHL, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-651-5P	99.64	68.49	1104
HSA-MIR-4437	99.52	65.29	1266
HSA-MIR-504-3P	99.30	67.18	1745
HSA-MIR-4758-3P	99.12	63.96	869
HSA-MIR-939-3P	98.97	65.07	2347
HSA-MIR-367-5P	98.84	67.18	902
HSA-MIR-4463	98.56	66.05	1071
HSA-MIR-6864-5P	98.38	66.59	1079
HSA-MIR-6867-3P	98.12	66.07	1305
HSA-MIR-3132	97.96	67.91	711
HSA-MIR-6765-3P	97.83	64.59	1165
HSA-MIR-4670-3P	97.37	68.35	1378
HSA-MIR-1227-3P	97.36	66.94	834
HSA-MIR-10400-3P	97.29	64.66	597
HSA-MIR-4674	97.29	64.62	597
HSA-MIR-197-5P	97.23	68.10	596

Functional genomics

ClinGen dosage: haploinsufficiency 40 (dosage sensitivity unlikely), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 3)

• BPHL is a serine hydrolase that catalyzes the hydrolytic activation of amino acid ester prodrugs of nuceloside analogs such as valacyclovir and valganciclovir. (PMID:12732646)
• BPHL catalyzes the hydrolytic activation of the antiviral prodrugs valacyclovir and valganciclovir. (PMID:15832508)
• The catalytic efficiency (kcat/Km) of rBPHL for homocysteine thiolactone hydrolysis was 7.7 x 10(4) M(-1)s(-1), orders of magnitude higher than that of PON1 or Blmh, indicating a more significant physiological role for BPHL in detoxifying HCTL (PMID:25333274)

Cross-species orthologs

11 orthologs

Organism	Symbol	Gene ID
		ENSDARG00000102877
mus_musculus	Bphl	ENSMUSG00000038286
rattus_norvegicus	Bphl	ENSRNOG00000017577
drosophila_melanogaster	CG5377	FBGN0038974
caenorhabditis_elegans	C31H5.1	WBGENE00007854
caenorhabditis_elegans		WBGENE00017335
caenorhabditis_elegans		WBGENE00018077
caenorhabditis_elegans		WBGENE00019525
caenorhabditis_elegans		WBGENE00022258
caenorhabditis_elegans		WBGENE00022259
caenorhabditis_elegans		WBGENE00022260

Paralogs (12): ABHD5 (ENSG00000011198), ABHD4 (ENSG00000100439), EPHX3 (ENSG00000105131), ABHD11 (ENSG00000106077), MEST (ENSG00000106484), ABHD14B (ENSG00000114779), EPHX2 (ENSG00000120915), ABHD8 (ENSG00000127220), ABHD6 (ENSG00000163686), EPHX4 (ENSG00000172031), SERHL2 (ENSG00000183569), ABHD14A (ENSG00000248487)

Protein

Protein identifiers

Serine hydrolase BPHL — Q86WA6 (reviewed: Q86WA6)

Alternative names: Biphenyl hydrolase-like protein, Biphenyl hydrolase-related protein, Breast epithelial mucin-associated antigen, L-homocysteine-thiolactonase BPHL, Valacyclovir hydrolase

All UniProt accessions (5): Q86WA6, B4DML3, F2Z2Q1, H7C0M3, Q49AI2

UniProt curated annotations — full annotation on UniProt →

Function. Specific alpha-amino acid ester serine hydrolase that prefers small, hydrophobic, and aromatic side chains and does not have a stringent requirement for the leaving group other than preferring a primary alcohol. Has homocysteine-thiolactonase activity (in vitro) and may play a significant role in the detoxification of homocysteine thiolactone in vivo. Catalyzes the hydrolytic activation of amino acid ester prodrugs of nucleoside analogs such as valacyclovir and valganciclovir, converting them into their active forms (acyclovir and ganciclovir).

Subunit / interactions. Monomer. May also form homodimers.

Subcellular location. Mitochondrion.

Tissue specificity. Expressed at high levels in liver and kidney and lower levels in heart, intestine and skeletal muscle.

Similarity. Belongs to the AB hydrolase superfamily. Lipase family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q86WA6-1	1, Beta	yes
Q86WA6-2	2, Alpha

RefSeq proteins (2): NP_001289706, NP_004323* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000073	AB_hydrolase_1	Domain
IPR029058	AB_hydrolase_fold	Homologous_superfamily

Pfam: PF00561

Catalyzed reactions (Rhea), 2 shown:

• L-homocysteine thiolactone + H2O = L-homocysteine + H(+) (RHEA:83867)
• valacyclovir + H2O = acyclovir + L-valine + H(+) (RHEA:83871)

UniProt features (53 total): helix 14, modified residue 13, strand 10, mutagenesis site 3, active site 3, sequence conflict 2, turn 2, signal peptide 1, chain 1, domain 1, splice variant 1, binding site 1, site 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
2OCG	X-RAY DIFFRACTION	1.75
2OCK	X-RAY DIFFRACTION	1.85
2OCI	X-RAY DIFFRACTION	1.9
2OCL	X-RAY DIFFRACTION	1.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86WA6-F1	92.43	0.88

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (4): 139 (nucleophile); 244 (charge relay system); 272 (charge relay system); 140 (binding of alpha-amino group of substrate)

Ligand- & substrate-binding residues (1): 221

Post-translational modifications (13): 126, 126, 184, 191, 191, 217, 243, 260, 260, 271, 271, 86, 119

Mutagenesis-validated functional residues (3):

Position	Phenotype
139	<0.1% of wild type valacyclovir hydrolase activity.
244	<0.1% of wild type valacyclovir hydrolase activity.
272	complete loss of valacyclovir hydrolase activity.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-211945	Phase I - Functionalization of compounds
R-HSA-1430728	Metabolism
R-HSA-211859	Biological oxidations

MSigDB gene sets: 179 (showing top): MORF_RAGE, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, REACTOME_BIOLOGICAL_OXIDATIONS, MORF_MSH3, GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, MORF_ATRX, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, HNF1_Q6, GOBP_HOMOCYSTEINE_METABOLIC_PROCESS, chr6p25, MARTINEZ_RB1_TARGETS_DN, MORF_PPP5C, HOSHIDA_LIVER_CANCER_SUBCLASS_S3, MORF_FANCG, GOCC_MITOCHONDRIAL_ENVELOPE

GO Biological Process (4): amino acid metabolic process (GO:0006520), xenobiotic metabolic process (GO:0006805), response to toxic substance (GO:0009636), homocysteine metabolic process (GO:0050667)

GO Molecular Function (5): serine hydrolase activity (GO:0017171), metal ion binding (GO:0046872), alpha-amino-acid esterase activity (GO:0047658), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (2): mitochondrion (GO:0005739), mitochondrial outer membrane (GO:0005741)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Biological oxidations	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
primary metabolic process	1
metabolic process	1
cellular response to xenobiotic stimulus	1
response to chemical	1
sulfur amino acid metabolic process	1
non-proteinogenic amino acid metabolic process	1
hydrolase activity	1
cation binding	1
carboxylic ester hydrolase activity	1
binding	1
catalytic activity	1
cytoplasm	1
intracellular membrane-bounded organelle	1
mitochondrial membrane	1
organelle outer membrane	1

Protein interactions and networks

STRING

1332 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BPHL	SLC15A1	P46059	538
BPHL	BLMH	Q13867	485
BPHL	RBBP9	O75884	454
BPHL	ABHD14B	Q96IU4	443
BPHL	ABHD14A	Q9BUJ0	427
BPHL	PPP4R4	Q6NUP7	414
BPHL	OVCA2	Q8WZ82	412
BPHL	ABHD4	Q8TB40	406
BPHL	MARS1	P56192	405
BPHL	ACTB	P02570	393
BPHL	RAD9B	Q6WBX8	383
BPHL	PLA2G12B	Q9BX93	370
BPHL	GAPDH	P00354	359
BPHL	UBFD1	O14562	354
BPHL	MARS2	Q96GW9	352

IntAct

4 interactions, top by confidence:

A	B	Type	Score
TOMM20	TPP1	psi-mi:“MI:0914”(association)	0.480
BPHL	SULT2B1	psi-mi:“MI:0914”(association)	0.350
SLC25A32	CS	psi-mi:“MI:0914”(association)	0.350

BioGRID (54): BPHL (Affinity Capture-RNA), MUT (Affinity Capture-MS), SETD3 (Affinity Capture-MS), PPP5C (Affinity Capture-MS), TTC19 (Affinity Capture-MS), MTHFD1L (Co-fractionation), SETD3 (Affinity Capture-MS), TTC19 (Affinity Capture-MS), PPP5C (Affinity Capture-MS), HSPD1 (Affinity Capture-MS), BPHL (Co-fractionation), BPHL (Co-fractionation), CARS2 (Co-fractionation), TIMM13 (Co-fractionation), BPHL (Co-fractionation)

ESM2 similar proteins: A1YER2, A1YFX9, A2T7G9, A6NNS2, B0BN93, B0BNF8, O22718, O35331, O35678, O75911, O77769, O80526, O88876, O95154, P11172, P14755, P15904, P84169, Q06136, Q15738, Q1RMJ5, Q28DS0, Q2KIJ5, Q2QNG7, Q2QZ86, Q3SZM9, Q3T067, Q3ZBE9, Q5E964, Q5I0K3, Q5PPL3, Q5R514, Q5R5C9, Q5RDZ2, Q6AY30, Q6UWP2, Q811X6, Q86WA6, Q8JGT5, Q8K183

Diamond homologs: A1VUV0, A4JPX5, A6TAC7, A7ZI96, A7ZWZ6, B1XBJ6, B2JQW2, B6HZX5, B7L505, B7M2Z7, B7MPB6, B7N8Q6, B7NK06, C6DGH6, I6XU97, O22975, P17548, P19076, P23106, P23133, P47229, P77044, P9WNH4, P9WNH5, Q13QH4, Q2VLB9, Q400K3, Q476M7, Q47GC1, Q47HL4, Q49KF8, Q52011, Q52036, Q52532, Q59324, Q6F9F4, Q73Y99, Q86WA6, Q8KRD3, Q8KZP5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

95 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	25
Likely pathogenic	0
Uncertain significance	48
Likely benign	2
Benign	2

Top pathogenic / likely-pathogenic (25)

Variant ID	HGVS	Classification
1180550	GRCh37/hg19 6p25.3-25.2(chr6:149619-3951208)x3	Pathogenic
148422	GRCh38/hg38 6p25.3-25.1(chr6:152634-5315679)x1	Pathogenic
149126	GRCh38/hg38 6p25.3-25.2(chr6:163083-3459607)x1	Pathogenic
149755	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x1	Pathogenic
154194	GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)x1	Pathogenic
154201	GRCh38/hg38 6p25.3-25.1(chr6:156974-4907692)x1	Pathogenic
154849	GRCh38/hg38 6p25.3-25.1(chr6:152634-6289804)x1	Pathogenic
1676308	GRCh37/hg19 6p25.3-25.2(chr6:375263-3655142)x1	Pathogenic
1808724	GRCh37/hg19 6p25.3-25.2(chr6:156975-3718881)x1	Pathogenic
242978	GRCh37/hg19 6p25.3-25.2(chr6:255350-3189972)x3	Pathogenic
253456	GRCh37/hg19 6p25.3-25.1(chr6:204009-6447311)x1	Pathogenic
3062928	GRCh37/hg19 6p25.3-25.2(chr6:156974-3175378)x3	Pathogenic
3062932	GRCh37/hg19 6p25.3-25.1(chr6:156974-4338899)x1	Pathogenic
3391889	GRCh37/hg19 6p25.3-25.1(chr6:156975-5885318)x1	Pathogenic
442040	GRCh37/hg19 6p25.3-25.1(chr6:2109893-5962832)x1	Pathogenic
442393	GRCh37/hg19 6p25.3-25.1(chr6:156974-6417749)x1	Pathogenic
443199	GRCh37/hg19 6p25.3-25.2(chr6:383951-4183288)x1	Pathogenic
563138	GRCh37/hg19 6p25.3-25.2(chr6:156974-3398920)x1	Pathogenic
57077	GRCh38/hg38 6p25.3-25.1(chr6:163083-6062800)x1	Pathogenic
58125	GRCh38/hg38 6p25.3-25.1(chr6:144957-5239181)x3	Pathogenic
58405	GRCh38/hg38 6p25.3-25.1(chr6:107682-4978781)x1	Pathogenic
58407	GRCh38/hg38 6p25.3-25.1(chr6:163083-5875402)x1	Pathogenic
58409	GRCh38/hg38 6p25.3-25.1(chr6:164633-6284237)x1	Pathogenic
58410	GRCh38/hg38 6p25.3-25.1(chr6:164633-5823601)x1	Pathogenic
980203	GRCh37/hg19 6p25.3-25.2(chr6:302183-3290583)x3	Pathogenic

SpliceAI

1963 predictions. Top by Δscore:

Variant	Effect	Δscore
6:3123753:G:GT	donor_gain	1.0000
6:3123753:G:T	donor_gain	1.0000
6:3123757:T:G	donor_gain	1.0000
6:3127238:TTAGG:T	acceptor_loss	1.0000
6:3127239:TAGG:T	acceptor_loss	1.0000
6:3127240:A:T	acceptor_loss	1.0000
6:3127241:G:A	acceptor_loss	1.0000
6:3127241:GGAA:G	acceptor_gain	1.0000
6:3127406:AAGG:A	donor_loss	1.0000
6:3127408:GGTA:G	donor_loss	1.0000
6:3127409:GTAG:G	donor_loss	1.0000
6:3129197:GG:G	donor_gain	1.0000
6:3129198:GG:G	donor_gain	1.0000
6:3140510:G:GG	donor_gain	1.0000
6:3118844:TCGG:T	donor_loss	0.9900
6:3118845:CGGG:C	donor_loss	0.9900
6:3118848:GTA:G	donor_loss	0.9900
6:3118849:T:A	donor_loss	0.9900
6:3123724:G:GT	donor_gain	0.9900
6:3127234:GTTTT:G	acceptor_loss	0.9900
6:3127240:A:AG	acceptor_gain	0.9900
6:3127241:G:GG	acceptor_gain	0.9900
6:3127241:GGA:G	acceptor_gain	0.9900
6:3127379:G:T	donor_gain	0.9900
6:3127405:GAAG:G	donor_gain	0.9900
6:3127409:G:GG	donor_gain	0.9900
6:3129138:AAGAT:A	acceptor_gain	0.9900
6:3129195:GAGG:G	donor_gain	0.9900
6:3129198:GGTAG:G	donor_loss	0.9900
6:3129199:G:GA	donor_loss	0.9900

AlphaMissense

1892 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:3129082:G:T	S139I	0.995
6:3140451:G:C	D244H	0.995
6:3129078:T:A	W138R	0.993
6:3129078:T:C	W138R	0.993
6:3137454:T:A	W209R	0.992
6:3137454:T:C	W209R	0.992
6:3127310:T:A	W94R	0.991
6:3127310:T:C	W94R	0.991
6:3127329:G:A	G100E	0.991
6:3129088:G:T	G141V	0.991
6:3137382:T:A	W185R	0.991
6:3137382:T:C	W185R	0.991
6:3140452:A:C	D244A	0.991
6:3140452:A:T	D244V	0.991
6:3127305:T:A	V92D	0.990
6:3127335:C:T	S102F	0.990
6:3129087:G:T	G141W	0.990
6:3129088:G:A	G141E	0.990
6:3152543:T:C	F282L	0.990
6:3152545:C:A	F282L	0.990
6:3152545:C:G	F282L	0.990
6:3127259:T:C	F77L	0.989
6:3127261:T:A	F77L	0.989
6:3127261:T:G	F77L	0.989
6:3127349:C:A	R107S	0.989
6:3127391:G:C	A121P	0.989
6:3140452:A:G	D244G	0.989
6:3129150:T:A	W162R	0.988
6:3129150:T:C	W162R	0.988
6:3137456:G:C	W209C	0.988

dbSNP variants (sampled 300 via entrez): RS1000037533 (6:3118459 G>A,C,T), RS1000052060 (6:3140210 G>A), RS1000114830 (6:3125245 A>G), RS1000200136 (6:3149763 G>A), RS1000331857 (6:3141826 T>C), RS1000365601 (6:3121275 A>T), RS1000446134 (6:3118921 G>A,C,T), RS1000448551 (6:3127080 A>G), RS1000464808 (6:3142494 T>C), RS1000492058 (6:3127529 C>T), RS1000793874 (6:3119129 G>C), RS1001114344 (6:3132628 C>G), RS1001182106 (6:3141675 T>A), RS1001182819 (6:3120325 G>A,C), RS1001241269 (6:3116815 T>C)

Disease associations

OMIM: gene MIM:603156 | disease phenotypes: MIM:602482, MIM:113300, MIM:615763, MIM:612582, MIM:601631

GenCC curated gene-disease

Mondo (5): Axenfeld-Rieger syndrome type 3 (MONDO:0011233), brachydactyly type E1 (MONDO:0007223), complex cortical dysplasia with other brain malformations 5 (MONDO:0014337), chromosome 6pter-p24 deletion syndrome (MONDO:0012948), anterior segment dysgenesis 3 (MONDO:0024456)

Orphanet (4): Axenfeld-Rieger syndrome (Orphanet:782), Brachydactyly type E (Orphanet:93387), Rieger anomaly (Orphanet:91483), Distal deletion 6p syndrome (Orphanet:96125)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST90013421_12	Left-handedness	2.000000e-12

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009902	handedness

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
C566194	Brachydactyly, Type E (supp.)
C567239	Chromosome 6pter-P24 Deletion Syndrome (supp.)
C535535	Iridogoniodysgenesis type1 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3308924 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs9405612	BPHL		0.00	0

CTD chemical–gene interactions

40 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	decreases expression	4
Benzo(a)pyrene	decreases expression, decreases methylation	3
Aflatoxin B1	affects expression, decreases expression	3
bisphenol A	affects expression, decreases expression	2
sodium arsenite	decreases expression, increases expression	2
perfluorooctanoic acid	decreases expression, increases expression	2
Acetaminophen	decreases expression, increases expression	2
Cadmium	increases abundance, increases expression	2
Valproic Acid	affects expression, increases methylation	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	decreases expression	1
trichostatin A	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
beta-methylcholine	affects expression	1
perfluoro-n-nonanoic acid	decreases expression	1
deguelin	decreases expression	1
fenpyroximate	decreases expression	1
4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide	decreases expression	1
thifluzamide	decreases expression	1
pyrachlostrobin	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
picoxystrobin	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Temozolomide	increases expression	1
Sunitinib	decreases expression	1
Valacyclovir	increases hydrolysis	1
Valganciclovir	increases hydrolysis	1
Antimycin A	decreases expression	1
Atrazine	decreases expression	1
Cisplatin	affects cotreatment, increases expression	1

ChEMBL screening assays

4 unique, capped per target: 4 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1066194	Binding	Activity of human recombinant VACVase assessed as hydrolysis	Enhancing the intestinal absorption of molecules containing the polar guanidino functionality: a double-targeted prodrug approach. — J Med Chem

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.